D76H (p.Asp76His) variant of ADCY5 (Adenylate cyclase type 5)
D76H (p.Asp76His) in ADCY5 (Adenylate cyclase type 5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
D76H (p.Asp76His) variant details
- p.Asp76His
- rs753975649
- ClinGen CA2577721
- ClinVar RCV002856871
- ClinVar RCV004064967
- Conflicting interpretations
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.341
- REVEL 0.25
- MetaLR 0.34
- MetaSVM -0.31
- CADD 23.00
- PolyPhen-2 0.60
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:PUR population (allele frequency 0.0051)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)